| Phenotype details |
delayed development prior to seizure onset, fixed and followed by 6w, never rolled over, never sat, non-ambulatory; 7m-onset infantile spasms (18m-ceased, 5y-recurred); profound intellectual disability, non-verba, regression with seizure onset: stopped smiling, reduced eye contact; myo conic seizures (onset uncertain, by 15m), absence seizures, tonic seizures, focal impaired awareness seizures (onset 5y); seizure offset 6y10m following bilateral femoral osteotomy; EEG-posterior quadrant epileptiform discharges evolving to abundant posterior spike-wave discharges, polyspike wave and low voltage paroxysmal fast activity L>R, multifocal epileptiform activity, diffuse background slowing, spasms associated with bilateral slow & fast paroxysms (10m and 15m), tonic seizures lasting 2–40 seconds associated with low voltage fast activity R>L, myolconic jerks in sleep associated with polyspike wave;1y4m: large ventricles especially frontal horns, small incompletely rotated hippocampi, thin corpus callosum, decreased white matter volume, delayed myelination (approx 9m), large extra axial spaces; MRI brain 4y1m larger ventricles, round hippocampi, no internal architecture in hippocampi, bright on T2 and improved rotation, very thin corpus callosum, decreased white matter volume and very delayed myelination, blooming in cerebral peduncles and both globus pallidi, FDG-PET 2y4m-extensive bilateral frontal cortical hypometabolism L>R; profound myopia, cortical visual impairment, asymmetric spastic quadriparesis, dislocated left hip, kyphosis, scoliosis, no dysmorphic or behavioral features |
